R441P (p.Arg441Pro) variant of TH (Tyrosine 3-monooxygenase)
R441P (p.Arg441Pro) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R441P (p.Arg441Pro) variant details
- p.Arg441Pro
- rs367874223
- ClinGen CA5818325
- cosmic curated COSV99171
- ClinVar RCV003625084
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.23
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.55
- SIFT 0.23
- EVE 0.16
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. (PMID 23939262)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)